Genetic Information: Legal Issues Relating to Discrimination and Privacy
Genetic Information: Legal Issues Relating
to Discrimination and Privacy
Updated April 28, 2008
Nancy Lee Jones
American Law Division
Amanda K. Sarata
Analyst in Genetics
Domestic Social Policy Division
Genetic Information: Legal Issues Relating to
Discrimination and Privacy
In April 2003, the sequence of the human genome was deposited into public
databases. This milestone, which has been compared to the discoveries of Galileo,
and other advances in genetics have created novel legal issues relating to genetic
information. The Human Genome Project produced detailed maps of the 23 pairs of
human chromosomes and sequenced 99% of the three billion nucleotide bases that
make up the human genome. The sequence information should aid in the
identification of genes underlying disease, raising hope for genetic therapies to cure
disease, but this scientific accomplishment is not without potential problems. For
instance, the presence of a specific genetic variation may indicate a predisposition to
disease but does not guarantee that the person will manifest the disease: How should
an employer or insurer respond? The ethical, social and legal implications of these
technological advances have been the subject of significant scrutiny and concern.
The legal implications of such information have been addressed in various ways
largely by states, but also by Congress. The Health Insurance Portability and
Accountability Act of 1996, P.L. 104-191, is the first federal law to specifically
address discrimination and insurance issues relating to genetic discrimination.
Congress is currently considering genetic discrimination legislation. H.R. 493, the
Genetic Information Nondiscrimination Act of 2007 (GINA), was introduced in the
It passed the House on April 25, 2007. A companion bill, S. 358, 110th Congress,
was introduced by Senator Snowe and 22 cosponsors on January 22, 2007, and has
been reported out of the Senate Labor and Human Resources Committee. On March
5, 2008, the text of H.R. 493 as passed by the House was added to the end of the Paul
Wellstone Mental Health and Addiction Equity Act of 2007 (H.R. 1424) in the
engrossment of H.R. 1424. On April 24, 2008, the Senate took up H.R. 493, replaced
the existing language with an amendment in the nature of a substitute, and passed the
measure, as amended, by a vote of 95-0. The House is expected to pass H.R. 493 (as
amended) during the week of April 28, 2008.
In the 109th Congress, S. 306, the Genetic Information Nondiscrimination Act
of 2005, was passed on February 17, 2005, by a vote of 98-0. A companion bill, H.R.
1227, was introduced on March 10, 2005, and another bill, H.R. 6125, was
introduced on September 20, 2006. In the 108th Congress, the Senate passed the
Genetic Information Nondiscrimination Act of 2003, S. 1053. H.R. 1910 was
introduced in the House and hearings were held, but the bill was not passed in the
108th Congress. This report discusses current federal law, state statutes, and
legislation. It will be updated as needed.
The Health Insurance Portability and Accountability Act
of 1996 (HIPAA)..........................................7
The Americans with Disabilities Act...............................8
EEOC Interpretation of the ADA Regarding Genetic Discrimination..9
Supreme Court ADA Decisions..............................11
The ADA and Health Insurance..............................15
Privacy Act of 1974.......................................17
The Freedom of Information Act (FOIA)......................18
The Americans with Disabilities Act (ADA)....................18
The Health Insurance Portability and Accountability Act (HIPAA)..19
Legislation in the 110th Congress.................................21th
Legislation in the 109 Congress.................................23
Legislation in the 108th Congress.................................23th
Legislation in the 107 Congress.................................24
Legislation in the 106th Congress.................................25
Genetic Information: Legal Issues Relating
to Discrimination and Privacy
In April 2003, the sequence of the human genome was deposited into public
databases. Scientists involved in the Human Genome Project (HGP)1 reported that
the finished sequence consists of overlapping fragments covering 99% of the coding
regions of the human genome, with an accuracy of 99.999%.2 These rapid advances
provide powerful tools for determining the causes, and potentially the cures, for many
common, complex diseases such as diabetes, heart disease, Parkinson’s disease,
bipolar illness, and asthma.
In congressional testimony Dr. Francis Collins, the Director of the National
Human Genome Research Institute, described the potential the information generated
by the HGP holds for medicine and public health. He stated that “The human
genome sequence provides foundational information that now will allow
development of a comprehensive catalog of all of the genome’s components,
determination of the function of all human genes, and deciphering of how genes and
proteins work together in pathways and networks. Completion of the human genome
sequence offers a unique opportunity to understand the role of genetic factors in
health and disease, and to apply that understanding rapidly to prevention, diagnosis,
and treatment. This opportunity will be realized through such genomics-based
approaches as identification of genes and pathways and determining how they
interact with environmental factors in health and disease, more precise prediction of
disease susceptibility and drug response, early detection of illness, and development
of entirely new therapeutic approaches.”3
1 The Human Genome Project, begun in 1990, is a 13 year effort coordinated by the U.S.
Department of Energy and the National Institutes of Health to identify all of the protein-
coding genes in human DNA and to determine the sequences of the 3 billion chemical bases
that make up human DNA, store this information in data bases, develop tools for data
analysis, and address the ethical, legal, and social issues (ELSI) that may arise from the
project. The Human Genome Project is funded through the Department of Energy and the
National Institutes of Health. For more detailed information see “The National Human
Genome Research Institute,” [http://www.genome.gov/], and “Human Genome Project
2 “International Human Genome Sequencing Consortium Describes Finished Human
Genome Sequence,” October, 20, 2004, at [http://www.genome.gov/12513430].
3 Testimony of Francis S. Collins, Director, National Human Genome Research Institute,
National Institutes of Health, Before the Subcommittee on Health of the House Committee
As Collins stated, with completion of the human genome sequence, scientists
will now focus on understanding the clinical and public health implications of the
sequence information. All disease has a genetic component and therefore genomic
research has the potential to substantially reduce the collective burden of disease in
the general population. Clinical genetic tests are becoming available at a rapid rate,
with 1,013 clinical genetic tests currently available.4 In addition, private insurers are
beginning to include some clinical genetic tests in their health insurance benefits
packages as evidence of the tests’ clinical validity accumulates.5 For example, some
health plans have coverage policies for specific conditions, such as hereditary cancer
testing, Cystic Fibrosis, Tay Sachs disease, and hereditary hemochromatosis.
These scientific advances in genetics, while promising, are not without potential
problems. The ethical, social and legal implications of genetic research have been
the subject of significant scrutiny and a portion of the funds for the Human Genome
Project are set aside to support the analysis and research of these issues.6 As
scientific knowledge about genetics becomes increasingly widespread, numerous
researchers and commentators, including Dr. Francis Collins, have expressed
concerns about how this information will used.7 In congressional testimony, Dr.
Collins stated: “while genetic information and genetic technology hold great promise
for improving human heath, they can also be used in ways that are fundamentally
unjust. Genetic information can be used as the basis for insidious
discrimination....The misuse of genetic information has the potential to be a very
serious problem, both in terms of people’s access to employment and health
insurance and the continued ability to undertake important genetic research.”8
This concern has encompassed fear of discrimination in many aspects of life,
including employment and health and life insurance. A study on discrimination
on Energy and Commerce (May 22, 2003).
4 Gene Tests, available at [http://www.genetests.org/].
5 For more information on the status of genetic tests and further discussion of what
constitutes ‘genetic information,’ see CRS Report RL33832, Genetic Testing: Scientific
Background for Policymakers, by Amanda K. Sarata.
6 The group working on these issues is referred to as the Ethical, Legal and Social
Implications (ELSI) program. See [http://www.genome.gov/page.cfm?pageID=10001618].
7 Testimony by Dr. Francis Collins, Director, National Center for Human Genome
Research, Before the Senate Committee on Labor and Human Resources (March 6, 1996).
See also, Hudson, Rothenberg, Andrews, Kahn, and Collins, “Genetic Discrimination and
Health Insurance: An Urgent Need for Reform,” 270 Science 391 (Oct. 20, 1995); Annas,
Glantz and Roche, “Drafting the Genetic Privacy Act: Science, Policy and Practical
Considerations,” 23 J. of Law, Medicine and Ethics 360 (1995); Gostin, “Genetic
Discrimination: The Use of Genetically Based Diagnostic and Prognostic Tests by
Employers and Insurers,” 17 Am. J. of Law & Med. 109 (1991); Rothstein, Mark, Genetic
Secrets: Protecting Privacy and Confidentiality in the Genetic Era (1997).
8 Testimony of Francis S. Collins, Director, National Human Genome Research Institute,
National Institutes of Health, Before the Senate Health, Education, Labor and Pensions
Committee (July 20, 2000).
found that a number of institutions, including health and life insurance companies,
health care providers, blood banks, adoption agencies, the military and schools, were
reported to have engaged in genetic discrimination against asymptomatic
individuals.9 The discriminatory practices included allegedly treating a genetic
diagnosis as a preexisting condition for insurance purposes, refusal by an adoption
agency to allow a woman at risk for Huntington’s disease to adopt based on the
woman’s genetic risk, and termination from employment after disclosure of a risk of
Huntington’s disease.10 Similarly, another study reported that twenty-two percent of
the respondents indicated that they or a family member were refused health insurance
as a result of a genetic condition.11
Both the U.S. Chamber of Commerce and America’s Health Insurance Plans
(AHIP) have countered that there is no convincing evidence that employers or
insurers engage in genetic discrimination and that federal legislation to prohibit
discrimination based on genetic information is unnecessary.12 Larry Lorber,
representing the U.S. Chamber of Commerce, stated in congressional testimony that
“There is little to no evidence of employer collection or misuse of genetic
information in today’s workplace. This is despite continued predictions that, in the
absence of a bill, the fear of increased insurance costs, absenteeism, and low
productivity would inevitably drive vast numbers of employers to genetic testing of
the workforce and employment discrimination based on genetic makeup. Whether
it is due to the threat of liability under existing protections, fear of public backlash,
moral concerns or simply a lack of interest, employer collection and misuse of
genetic information remains largely confined to the pages of science fiction.” He
goes on to state that, “the current body of Federal law, including the ADA, Title VII
of the Civil Rights Act, HIPAA and other Federal laws are more than ample to deal
with any misuse of genetic information.”13 In discussions with the Secretary’s
Advisory Committee on Genetics, Health and Society (SACGHS), the Chamber
stated that while it does not believe that employers are engaging in genetic
discrimination, it does recognize that the fear of potential discrimination may warrant
a legislative solution.14 In addition, America’s Health Insurance Plans states that,
9 Geller, Alper, Billings, Barash, Beckwith, and Natowicz, “Individual, Family, and
Societal Dimensions of Genetic Discrimination: A Case Study Analysis,” 2 Science and
Engineering Ethics 71 (1996). The study has been criticized by the insurance industry as
relying on anecdotal information. See American Council of Life Insurance, “Statement
Regarding the Council for Responsible Genetics ‘Study’ on Genetic Discrimination” (April
11 Lapham, E. Virginia, Kozma, Chahira, Weiss, Joan O., “Genetic Discrimination:
Perspectives of Consumers,” 274 Science 621 (October 25, 1996).
12 “Testimony of the HIAA on Genetic Testing,” Before the Senate Committee on Labor
and Human Resources, 105th Cong., 2d Sess. (May 21, 1998).
13 Testimony of Lawrence Lorber, on behalf of the U.S. Chamber of Commerce, Before the
Subcommittee on Employer-Employee Relations of the House Committee on Education and
the Workforce (July 22, 2004).
14 Meeting of the Secretary’s Advisory Committee on Genetics, Health, and Society.
“As a matter of practice, health insurance plans do not use or disclose such private
health information [genetic information] for purposes outside of normal insurance
coverage activities. Moreover, federal and state laws currently prohibit the
inappropriate use of genetic information.”15
Legal cases of genetic discrimination have been few. However, studies have
shown that public fear of discrimination is substantial and negatively influences the
uptake of genetic testing and the use of genetic information by consumers and health
professionals. SACGHS learned that 68% of Americans are concerned about who
would have access to their personal genetic information; 31% state this concern
would prevent them from having a genetic test; and 68% agree that insurers would
do everything possible to use genetic information to deny health coverage.16 A 2004
survey conducted by the Genetics and Public Policy Center found that 92% of
Americans oppose employer access to personal genetic information and 80% oppose
access to this information by health insurers.17 In addition, SACGHS as well as its
predecessor Committee, the Secretary’s Advisory Committee on Genetic Testing
(SACGT), sponsored two public forums to gather perspectives on genetic
discrimination. Many comments were received from patients, consumers, health
professionals, scientists, genetic test developers, educators, industry representatives,
policymakers, lawyers, students and others representing a wide range of diverse
ethnic and racial groups.18 The comments and testimony revealed several anecdotal
cases of discrimination. SACGT sent two letters to the Secretary of HHS urging
support for nondiscrimination protections:
During consultations with the public SACGT heard from many Americans who
are concerned about the misuse of genetic information by third parties, such as
health insurers and employers, and the potential for discrimination based on that
information. Many stated that fear of genetic discrimination would dissuade
them from undergoing a genetic test or participating in genetic research studies.
Others stated that they would pay out of pocket for a genetic test to prevent the
results from being placed in their medical record. Such concerns are a deterrent
February 27, 2005. Accessed at [http://www4.od.nih.gov/oba/SACGHS/meetings
15 America’s Health Insurance Plans (AHIP). “Use of Genetic Information” at
[ ht t p: / / www.ahi p.or g/ cont ent / def aul t .aspx?bc=39|341|326] .
16 Meeting of the Secretary’s Advisory Committee on Genetics, Health, and Society.
October 2005. Accessed at [http://www4.od.nih.gov/oba/SACGHS/meetings
/Oct ober 2005/ 10-20% 20Publ i c % 20Attitudes%20toward%20Advances%20in%20Genetics
17 Testimony of Kathy Hudson, Director, Genetics and Public Policy Center, before the
Secretary’s Advisory Committee on Genetics, Health, and Society. Accessed at
[http://126.96.36.199/new s . e n e w s . a r t i c l e .php?action=detail&newsletter_id=16&article_
18 Highlights and transcripts of January 27, 2000 testimony can be found on the SACGT
website at [http://www4.od.nih.gov/oba/sacgt/sacgtmtg.htm], Transcripts of the October 18,
SACGHS/meetings /October2004/SACGHSOct2004postmeeting.htm] .
to advances in the field of genetic testing and may limit the realization of the19
benefits of genetic testing.
The SACGHS held a half day session where it heard testimony from members
of the public, health care providers, insurers, employers and other stakeholders. This
testimony revealed actual cases of genetic discrimination as well as considerable fear
of genetic discrimination and altered behavior due to this fear. The Committee
compiled the comments it received both orally and in writing, produced a DVD
highlighting the oral testimony it received, and provided an extensive legal analysis
concluding that current law does not provide adequate protection against genetic
discrimination in health insurance and employment. This information was shared
with the Secretary of HHS, with a recommendation that it also be shared with key
Members of Congress. The Committee was interested in independently investigating
the claims made by opponents that genetic discrimination was not occurring and that
current law provides adequate protection against discrimination.
A joint report by the Department of Labor, the Department of Health and
Human Services, the Equal Employment Opportunity Commission (EEOC) and the
Department of Justice summarized the various studies on discrimination based on
genetic information and argued for the enactment of federal legislation. The report
stated that “genetic predisposition or conditions can lead to workplace
discrimination, even in cases where workers are healthy and unlikely to develop
disease or where the genetic condition has no effect on the ability to perform work”
and that “because an individual’s genetic information has implications for his or her
family members and future generations, misuse of genetic information could have
intergenerational effects that are far broader than any individual incident of
misuse.”20 Concluding that existing protections are minimal, the report went on to
call for the enactment of legislation which states that (1) employers should not
require or request that employees or potential employees take a genetic test or
provide genetic information as a condition of employment or benefits, (2) employers
should not use genetic information to discriminate against, limit, segregate, or
classify employees, and (3) employers should not obtain or disclose genetic
information about employees or potential employees under most circumstances.21
According to the Labor Department report, employers should be able to (1) use
genetic information for monitoring for the effects of a particular substance in the
workplace under certain circumstances, and (2) disclose genetic information for
research and other purposes with the written, informed consent of the individuals.
In addition, the report states that the statutory authority of federal agencies or
19 From a letter from SACGT to Secretary Tommy Thompson, May 3, 2001, at
[http://www4.od.nih.gov/oba/s acgt/ltr_to_sec DHHS5-3-01.pdf].
20 Department of Labor, Department of Health and Human Services, Equal Employment
Opportunity Commission, Department of Justice, “Genetic Information and the Workplace,”
[http://www.dol.gov/oasam/programs/history/herman/reports/genetics.htm] 2-3 (January
21 Department of Labor, Department of Health and Human Services, Equal Employment
Opportunity Commission, Department of Justice, “Genetic Information and the Workplace,”
[http://www.dol.gov/oasam/programs/history/herman/reports/genetics.htm] at 7 (January
contractors to promulgate regulations, enforce workplace safety and health laws, or
conduct occupational or other health research should not be limited.22
The National Council on Disability (NCD), an independent federal agency that
advises the President and Congress on issues affecting individuals with disabilities,
published a position paper arguing for the enactment of federal legislation prohibiting
genetic discrimination on March 4, 2002. The NCD argues that recent advances in
genetic research have brought an increasing potential for genetic discrimination, that
genetic discrimination is a historical and current reality, that genetic discrimination
undermines the purposes of genetic research and testing, that genetic test information
has little value for purposes of making employment decisions and insurance
decisions, and that existing laws are insufficient to protect individuals from genetic
President Bush has also made the prohibition of genetic discrimination one of
the key components of his health care reform agenda. In his June 2001 radio address
to the nation, the President stated that, “Genetic discrimination is unfair to workers
and their families. It is unjustified - among other reasons, because it involves little
more than medical speculation. A genetic predisposition toward cancer or heart
disease does not mean the condition will develop. To deny employment or insurance
to a healthy person based only on a predisposition violates our country’s belief in
equal treatment and individual merit.”24 The Administration has indicated that it
favors enactment of legislation to prohibit the improper use of genetic information
in health insurance and employment.25
It should be emphasized that legal issues relating to genetics may vary
depending on whether insurance, employment or other types of discrimination, or
medical research are involved. Approaches to addressing the issues raised in these
contexts vary from taking no legislative action, addressing certain specific concerns
(as was done in the Health Insurance Portability and Accountability Act), or more far
reaching approaches such as comprehensive legislation on genetics or legislation
focused on all medical records, including genetic information.
Generally legal issues raised regarding genetics have been based on two main
concepts: privacy and discrimination. The privacy interests of an individual in his
or her genetic information have been seen as significant and protecting these interests
is seen as making discriminatory actions based on this information less likely.
However, another approach would be to prohibit this potential misuse of the
information by prohibiting discrimination. Some statutes, like the Americans with
Disabilities Act (ADA), 42 U.S.C. §§ 12101 et seq., take a two-pronged approach to
23 National Council on Disability, “Position Paper on Genetic Discrimination Legislation”
[http:// w w w . n cd.gov/newsroom/publications/ 2002/geneticdiscrimi na tion_principles.htm]
24 President George W. Bush. Presidential Radio Address. June 23, 2001. Accessed at
25 See [http://www.whitehouse.gov/news/releases/2007/01/print/20070117-1.html].
similar issues regarding medical information about disabilities by both protecting the
confidentiality of the information and by prohibiting discriminatory acts.
Currently there are no federal laws that directly and comprehensively address
the issues raised by the use of genetic information. There are, however, a few laws
that address parts of these issues but the only federal law that directly addresses the
issue of discrimination based on genetic information is the Health Insurance
Portability and Accountability Act (HIPAA). On February 8, 2000, President Clinton
issued an executive order prohibiting discrimination against federal employees based
on protected genetic information. On December 20, 2000, the Department of Health
and Human Services issued final regulations on medical privacy which are not
specific to genetics but cover all personal health information, including genetic
information.26 This rule went into effect on April 14, 2001 but was amended in
2002.27 In addition, many states have enacted laws which vary widely in their
approaches to the protection of genetic information.
The Health Insurance Portability and Accountability Act of
P.L. 104-191, the Health Insurance Portability and Accountability Act of 1996
(HIPAA),28 has been hailed as taking “important steps toward banning genetic
discrimination in health insurance” but has also been criticized as not going far
enough.29 The act prohibits a group health plan or issuer of a group health plan from
using genetic information to establish rules for eligibility or continued eligibility and
provides that genetic information shall not be treated as a preexisting condition in the
absence of the diagnosis of the condition related to such information. It also
prohibits a group health plan or issuer of a group health plan from using genetic
information in setting a premium contribution. These protections apply to
individuals within the group plans; they do not apply to the acceptance of the whole
group or to the premiums set for the group. Thus, HIPAA prohibits group health
plans or issuers of group health plans from charging an individual a higher premium
26 65 Fed. Reg. 82460 (Dec. 20, 2000).
27 See infra pp. 14-16 for a more detailed discussion.
28 For a general discussion of this act see CRS Report RL31634, The Health Insurance
Portability and Accountability Act (HIPAA) of 1996: Overview and Guidance on Frequently
Asked Questions, by Hinda R. Chaikind, Jean Hearne, Bob Lyke, and Stephen Redhead. For
a more detailed discussion of HIPAA and genetic discrimination see Robert B. Lanman, “An
Analysis of the Adequacy of Current Law in Protecting Against Genetic Discrimination in
Health Insurance and Employment,” at [http://www4.od.nih.gov/
oba/sacghs/reports/reports.html #discrimi nation].
29 Statement of Rep. Louise Slaughter Before the House Science Subcommittee on
Technology, Hearing on Technological Advance in Genetic Testing: Implications for the
Future, September 17, 1996.
than a similarly situated individual; however, the law does not prevent an entire
group from being charged more.
The act would not prohibit group health plans or issuers of plans (i.e., insurers)
from requiring or requesting genetic testing, does not require them to obtain
authorization before disclosing genetic information, and does not prevent them from
excluding all coverage for a particular condition or imposing lifetime caps on all
benefits or on specific benefits. In addition, this act does not apply to individual
health insurance policies, and does not address the issues of the use of genetic
information in contexts other than health insurance such as employment.30
The Americans with Disabilities Act
Overview. The Americans with Disabilities Act (ADA), 42 U.S.C. § 12101
et seq., prohibits discrimination against an individual with a disability in
employment, public services, public accommodations, and communications. The
threshold issue in any ADA case is whether the individual alleging discrimination is
an individual with a disability. The act defines the term disability with respect to an
individual as having “(A) a physical or mental impairment that substantially limits
one or more of the major life activities of such individual, (B) a record of such an
impairment; or (C) being regarded as having such an impairment.”31 Although the
statutory language of the ADA does not reference genetic traits, there was a
discussion of the issue during congressional debate.32 So far there have been no33
judicial decisions but one case was brought by the EEOC and settled. In addition,
30 It should also be noted the HIPAA contains certain requirements regarding the
standardization of claims that raise potential privacy issues. HIPAA addressed these issues
by requiring either congressional action or regulatory action to protect privacy. A more
detailed discussion of this issue is contained in the section on privacy.
31 42 U.S.C. § 12102.
32 Rep. Owens stated that “[t]hese protections of the ADA will also benefit individuals who
are identified through genetic tests as being carriers of a disease-associated gene. There is
a record of genetic discrimination against such individuals, most recently during sickle cell
screening programs in the 1970’s. With the advent of new forms of genetic testing, it is
even more critical that the protections of the ADA be in place. Under the ADA, such
individuals may not be discriminated against simply because they may not be qualified for
a job sometime in the future. The determination as to whether an individual is qualified
must take place at the time of the employment decision, and may not be based on
speculation regarding the future. Moreover, such individuals may not be discriminated
against because they or their children might incur increased health care costs for the
employer.” 136 Cong. Rec. H 4623 (daily ed. July 12, 1990) (remarks of Rep. Owens).
Similarly, Rep. Edwards and Rep. Waxman also stated that individuals who are carriers of
a disease-associated gene may not be discriminated against under the ADA. 136 Cong. Rec.
H 4625 (daily ed. July 12, 1990) (Statement of Rep. Edwards); Id. at H 4627 (Statement of
33 The EEOC alleged that Burlington Northern Sante Fe (BNSF) Railroad tested its
employees for a genetic marker linked to carpal tunnel syndrome in an attempt to address
a high number of repetitive stress injuries leading to employee compensation. The EEOC
and BNSF reached a settlement agreement rejecting the testing of employees for the genetic
Terri Seargent filed with the EEOC alleging genetic discrimination and received a
determination on November 21, 2000 that the EEOC’s investigation supported her
allegation of discrimination under the ADA.34
EEOC Interpretation of the ADA Regarding Genetic Discrimination.
The ADA has been interpreted by the Equal Employment Opportunity Commission
(EEOC) as including genetic information relating to illness, disease, or other
disorders.35 The legislative history was cited by the EEOC in its guidance to the
definition of disability for its compliance manual. In this guidance, the EEOC
examined the definition of disability under the ADA, noting that the definition was
composed of three prongs: disability means (1) a physical or mental impairment that
substantially limits one or more of the major life activities of an individual, (2) a36
record of such an impairment, or (3) being regarded as having such an impairment.
It was under the third prong that the EEOC determined that discrimination based on37
genetic information relating to illness, disease, or other disorders was prohibited.
Although this EEOC interpretation was widely heralded as a significant step for
the protection of rights for individuals whose genes indicate an increased
susceptibility to illness, disease or other disorders, it is limited in its application and
may be even more limited after the recent Supreme Court decisions on the definition38
of disability. However, the EEOC has not withdrawn this guidance and at Senate
marker. See Paul Miller, EEOC Commissioner, “Analyzing Genetic Discrimination in the
Workplace,” 12 Human Genome News (Feb. 2002) at [http://www.ornl.gov
34 Testimony of Janiori Goldman before the House Committee on Energy and Commerce,
Subcommittee on Health, 107th Cong., 1st Sess. (March 22, 2001).
35 Equal Employment Opportunity Commission, Compliance Manual, vol. 2, section 902,
order 915.002,902-45 (1995). It is also possible that Title VII of the Civil Rights Act of
1964, 42 U.S.C. § 2000e et seq., may provide some protection against certain kinds of
genetic discrimination since an argument could be made that discrimination based on genetic
disorders that are racially or ethnically based, such as sickle cell disease, is prohibited under
Title VII. There are relatively few genetic conditions that have a strong connection with a
racial or ethnic group, thus limiting the scope of potential coverage. However, in Norman-th
Bloodsaw v. Lawrence Berkeley Laboratory, 135 F.3d 1260 (9 Cir. 1998), blood tests for
sickle cell trait were found to give rise to a Title VII claim.
36 42 U.S.C. § 12102(2).
37 The EEOC gave the following example of its application of the third prong of the
definition to genetic discrimination. CP’s genetic profile reveals an increased susceptibility
to colon cancer. CP is currently asymptomatic and may never in fact develop colon cancer.
After making CP a conditional offer of employment, R learns about CP’s increased
susceptibility to colon cancer. R then withdraws the job offer because of concerns about
matters such as CP’s productivity, insurance costs and attendance. R is treating CP as
having an impairment that substantially limits a major life activity. Accordingly CP is
covered by the third part of the definition of disability.
38 Prior to the Supreme Court’s decisions there were three major limitations on the EEOC
interpretation. First, the ADA specifically excludes insurance from its coverage except that
hearings, EEOC Commissioner Paul Miller stated that the ADA “can be interpreted
to prohibit employment discrimination based on genetic information. However, the
ADA does not explicitly address the issue and its protections are limited and
uncertain.” In addition, Commissioner Miller observed that even if the ADA were
found to cover genetic discrimination, the requirements of the ADA may not protect
workers from all types of genetic discrimination. He stated, “for example, the ADA
does not protect workers from requirements or requests to provide genetic
information to their employers....In addition, once the applicant is hired, the employer
may request that the employee take a medical exam, such as a genetic test, if the
employer can demonstrate that the information from that test is job related and
consistent with business necessity.”39
The first ADA case alleging genetic discrimination was filed with the EEOC by
Terri Seargent. Ms. Seargent, whose situation was extensively discussed during
Senate debate on genetic discrimination in the 106th Congress, had a promising career
as a manager for a small insurance broker in North Carolina. She had positive
performance evaluations but after medical tests determined that she had Alpha 1
Antitrypson Deficiency, a condition that affects the lungs and liver, and she began
taking expensive medication, she was terminated from her employment.40 Ms.
Seargent filed with the EEOC alleging genetic discrimination and received a
determination on November 21, 2000 that the EEOC’s investigation supported her
allegation of discrimination under the ADA.41
The EEOC settled its first court action challenging the use of workplace genetic
testing under the ADA against Burlington Northern Santa Fe Railway (BNSF). The
settlement, announced on April 18, 2001, ended genetic testing of employees who
this exclusion “shall not be used as a subterfuge to evade the purposes of title I and III.” The
exact parameters of this provision, especially as it relates to genetic information, are unclear
although it would appear fair to say the nondiscrimination protections for individuals with
certain genes would be considerably stronger in the employment context than when such
individuals are being considered for insurance coverage. Second, the EEOC interpretation
is part of guidance issued in its compliance manual. Specific prohibitions of discrimination
in this area were not included in the statute and were also not part of the EEOC’s
regulations. Even if a court gives deference to the guidance as indicative of the agency’s
view of the statute, a court would not likely give such guidance the deference it would
accord to statutory or regulatory language. In addition, even assuming the ADA was found
to apply, it may not protect employees from having their employers have access to their
genetic information. Although the ADA prohibits an employer from making medical
inquiries prior to a job offer, the employer may obtain medical information in certain cases
after the offer of employment has been made. Even if the prohibitions against
discrimination in the ADA would apply, it would be difficult to prove that genetic
information was the reason for discrimination.
39 Statement of Commissioner Paul Steven Miller, U.S. Equal Employment Opportunity
Commission, Before the Senate Committee on Health, Education, Labor and Pensions (July
40 146 Cong. Rec. S6050 (daily ed. June 29, 2000)(remarks of Sen. Kennedy).
41 Testimony of Janiori Goldman before the House Committee on Energy and Commerce,
Subcommittee on Health, 107th Cong., 1st Sess. (March 22, 2001).
filed claims for work-related injuries based on carpal tunnel syndrome. EEOC
Commissioner Paul Steven Miller stated “The Commission will continue to respond
aggressively to any evidence that employers are asking for or using genetic tests in
a manner that violates the ADA. Employers must understand that basing
employment decisions on genetic testing is barred under the ADA’s ‘regarded as’
prong, as stated in EEOC’s 1995 policy guidance on the definition of the term
‘disability.’ Moreover, genetic testing, as conducted in this case, also violates the
ADA as an unlawful medical exam.”42
Supreme Court ADA Decisions. Although the combination of the ADA’s
legislative history and the EEOC’s guidance has led commentators to argue that the
ADA would cover genetic discrimination, the merit of these arguments has been
uncertain since there have been no reported cases holding that the ADA prohibits
genetic discrimination. This uncertainty has increased in light of Supreme Court43
decisions on the definition of disability under the ADA.
The first Supreme Court ADA case to address the definition of disability was
Bragdon v. Abbott, a 1998 case involving a dentist who refused to treat an HIV44
infected individual outside of a hospital. In Bragdon, the Court found that the
plaintiff’s asymptomatic HIV infection was a physical impairment impacting on the
major life activity of reproduction thus rending HIV infection a disability under the
ADA. In two 1999 cases the Court examined the definitional issue whether the
effects of medication or assistive devices should be taken into consideration in
determining whether or not an individual has a disability. The Court in the landmark4546
decisions of Sutton v. United Airlines and Murphy v. United Parcel Service, Inc.,
held, contrary to the interpretation given by the EEOC, that the determination of
whether an individual has a disability should be made with reference to mitigating
measures. In reaching this holding, the Court looked to the first prong of the
definition of disability (having a physical or mental impairment that substantially
limits one or more of the major life activities of an individual) and emphasized that
the phrase “substantially limits” appears in the present indicative verb form
“requiring that a person be presently — not potentially or hypothetically —
substantially limited in order to demonstrate a disability....A person whose physical
or mental impairment is corrected by medication or other measures does not have an47
impairment that presently ‘substantially limits’ a major life activity.” In Albertsons
43 For a discussion of the Supreme Court’s ADA decisions see CRS Report RL31401, The
Americans with Disabilities Act: Supreme Court Decisions, by Nancy Lee Jones.
44 524 U.S. 624 (1998). For a more detailed discussion of this decision see CRS Report 98-
599, The Americans with Disabilities Act: HIV Infection is Covered Under the Act, by
Nancy Lee Jones.
45 527 U.S. 471 (1999).
46 527 U.S. 516 (1999).
47 527 U.S. 471, 482-483 (1999).
Inc. v. Kirkingburg48 the Court held unanimously that the ADA requires proof that
the limitation on a major life activity by the impairment is substantial. The Court in
Sutton also looked at the findings enacted as part of the ADA which stated that
“some 43,000,000 Americans have one or more physical or mental disabilities” and
found that this figure was inconsistent with the argument that the statute covered
individuals without looking at the mitigating effects of medications or devices. The
individualized nature of the inquiry into whether an individual was an individual with
a disability was emphasized.
More recently the Court held in Toyota Motor Manufacturing v. Williams,49 that
to be an individual with a disability under the act, an individual must have substantial
limitations that are central to daily life, not just limited to a particular job. The Court
held that “to be substantially limited in performing manual tasks, an individual must
have an impairment that prevents or severely restricts the individual from doing
activities that are of central importance to most people’s daily lives.” Significantly,
the Court also stated that “[t]he impairment’s impact must also be permanent or long-
Although the Court’s decision in Sutton did not turn on the third prong of the
definition of disability (being “regarded as having such an impairment”) the Court
did address the interpretation of this part of the definition. There are two ways, the
Court stated, that an individual can fall within the “regarded as” prong: (1) a covered
entity mistakenly believes that a person has a physical impairment that substantially
limits one or more major life activities, or (2) a covered entity mistakenly believes
that an actual impairment substantially limits one or more major life activities. The
Court found that, on its own, the allegation that an entity has a vision requirement in
place does not establish a claim that the entity regards an individual as substantially
impaired in the major life activity of working. The term “substantially limits” was
regarded as significant. It requires “at a minimum, that plaintiffs allege they are
unable to work in a broad class of jobs.”50 The Court emphasized that it was
“assuming without deciding” that working is a major life activity and that the EEOC
regulations interpreting “substantially limits” are reasonable and found that even
using the EEOC interpretation, the plaintiffs in Sutton failed to allege adequately that
their vision is regarded as an impairment that substantially limits them in a major life
activity. Being precluded from being a global airline pilot was not sufficient since
they could obtain other, although less lucrative jobs, as regional pilots or pilot
The “regarded as” prong was directly at issue in Murphy. In Murphy the Court
held that the fact that an individual with high blood pressure was unable to meet the
Department of Transportation (DOT) safety standards was not sufficient to create an
issue of fact regarding whether an individual is regarded as unable to utilize a class
of jobs. Like Sutton, the holding in Murphy emphasized the numerous other jobs
available to the plaintiff.
48 527 U.S. 555 (1999).
49 534 U.S. 184 (2002).
50 527 U.S. 471, 491 (1999).
The Supreme Court’s decisions on the ADA did not directly address genetic
discrimination and it is possible that the ADA could be interpreted to cover a
particular genetic defect. However, the reasoning used in the Court’s recent
decisions appears to make it unlikely that an ADA claim based on genetic
discrimination would be successful. There are several factors that lead to this
First, the Supreme Court in Sutton specifically struck down an interpretation by
the EEOC regarding the use of mitigating factors and raised questions concerning the
validity of the EEOC’s interpretation. The Court also found no statutory authority
for agency interpretation of the definition of disability. The EEOC had taken the
position that whether or not an individual has a disability should be determined by
what his or her condition would be without medication or an assistive device.
Rejecting this EEOC interpretation, in Sutton the Supreme Court noted that no
agency was given the authority to interpret the term “disability” but that because both
parties accepted the regulations as valid “we have no occasion to consider what
deference they are due, if any.” Similarly, in Murphy the Court clearly stated that its
use of the EEOC regulations did not indicate that the regulations were valid.
However, in its earlier decision in Bragdon v. Abbott, the Court had found its
conclusion that HIV infection was covered by the ADA to be “reinforced by
administrative guidance issued by the Justice Department....” The cases subsequent
to Bragdon did not examine this seeming contradiction so exactly how a future
decision would view EEOC regulations and guidance is uncertain. This issue is
especially important regarding potential cases of genetic discrimination since the
EEOC has published guidance indicating that the ADA covers genetic
discrimination,51 and there are no reported cases.
Similarly, the Supreme Court showed little indication to examine the legislative
history of the ADA. The Court in Sutton held that it was not necessary to consider
the legislative history of the ADA regarding the issue of whether individuals should
be examined in their uncorrected state or with the use of mitigating medications or
devices. It found that the statutory language was sufficient to support its holding on
this issue. Although the issue regarding genetic discrimination is distinct from that
of the use of mitigating medications and devices, the Court’s general reluctance to
examine legislative history in Sutton may indicate that the language on genetic
discrimination quoted above from the congressional debates also would not be
The Court’s reliance in Sutton upon the findings in the ADA that 43,000,000
Americans have one or more physical disabilities also indicates that the Court may
not find genetic defects to be covered. The number of individuals cited in the
findings as having a disability was seen by the Court as inconsistent with the
argument that the statute covered individuals whose disabilities were mitigated by
medications or devices. Since the prevalence of genetic defects is believed to be
widespread, coverage of genetic defects could arguably include almost every
individual. Thus, it is possible that the Court could use the same rationale as in
Sutton to find genetic defects not included.
51 EEOC Compliance Manual, Vol. 2, section 902, order 915.002,902-45 (1995).
In Bragdon v. Abbott, where the Court found that HIV infection was covered
under the ADA, the majority opinion spent considerable time discussing the
immediate physiological effects of the infection. This would appear to be consistent
with the holding in Sutton that the “substantially limits” definitional language
requires that the substantial limitation not be potential or hypothetical. In addition,
in Toyota Motor Manufacturing v. Williams substantial limitations were seen by the
Court as those that are central to daily life, not just limited to a particular job. This
reasoning could be contrasted to the situation presented by genetic defects which in
many cases do not ever manifest. Interestingly, in his dissenting opinion in Bragdon
v. Abbott, then Chief Justice Rehnquist, who was in the majority in Sutton, stated that
the argument regarding coverage of HIV infection “taken to its logical extreme,
would render every individual with a genetic marker for some debilitating disease
‘disabled’ here and now because of some possible future effects.” Whether the Court
would now share this view that such coverage of genetic discrimination is an invalid
interpretation of the definition is uncertain, especially since the Court in Bragdon
was discussing the first prong of the definition, not the “regarded as” prong which is
the most likely basis for coverage of genetic defects.
In other cases the Court provided considerable guidance concerning the
“regarded as” prong of the definition of disability, the most likely aspect of the
definition to be used to find coverage of genetic defects. Including the requirement
that the individual be regarded as “substantially limited” in a major life activity, the
Court found that this language meant that being precluded from a particular job was
not sufficient to be substantially limited in the major life activity of working if other
jobs in the same class could be obtained. And when this specific issue was raised in
Murphy, the plaintiff was not found to be regarded as substantially limited in the
major life activity of working. The main point of this rather complicated discussion
is that making the case that one is regarded as substantially limited in a major life
activity, particularly the major life activity of working, is likely to be difficult.
The Supreme Court’s decisions do not directly address ADA coverage of
genetic discrimination. They emphasize an individualized approach to the
determination of whether an individual has a disability under the ADA. Although an
argument could be made that the ADA would cover individuals with genetic defects
in certain cases, the Court’s decisions, particularly Sutton and Murphy, use reasoning
that would make it unlikely that most ADA claims based on genetic discrimination
would be successful.52
52 In testimony before the Senate Committee on Health, Education, Labor and Pensions,
Andrew J. Imparato, the President and CEO of the American Association of People with
Disabilities testified that “the ADA as drafted does provide some protections against genetic
discrimination in employment, but the law has been interpreted by the Supreme Court and
lower federal courts in a manner which weakens its protections. Whereas the ADA can be
and has been used to stop genetic discrimination in some instances, the protections it affords
offer little security to people with genetic markers and health conditions that have not yet
developed into full-blown debilitating conditions.” Testimony of Andrew J. Imparato,
“Protecting Against Genetic Discrimination: The Limits of Existing Laws,” Before theth
Senate Committee on Health, Education, Labor and Pensions, 107 Cong., 2d Sess. (Feb.
In addition, even assuming the ADA was found to apply, it may not protect
employees from having their employers have access to their genetic information.
Although the ADA prohibits an employer from making medical inquiries prior to a
job offer, the employer may obtain medical information in certain cases after the
offer of employment has been made. Assuming that the prohibitions against
discrimination in the ADA would apply, it is difficult to prove that genetic
information was the reason for discrimination. This raises issues relating to the
privacy of genetic information.
The ADA and Health Insurance. Title III of the ADA provides that no
individual shall be discriminated against on the basis of disability in the full and
equal enjoyment of the goods, services, facilities, privileges, advantages, or53
accommodations of any place of public accommodation. A place of public
accommodation is defined in part as an insurance office.54 It could be argued that
discrimination in insurance on the basis of genetic information would be a violation
of Title III of the ADA.55 However, such an argument would be limited since, in
addition to the limitations of the definition of disability discussed previously, the
ADA specifically states that Titles I through IV “shall not be construed to prohibit
or restrict an insurer....from underwriting risks, classifying risks, or administering
such risks that are based on or not inconsistent with State law.”56 The ADA also
provides that this provision “shall not be used as a subterfuge to evade the purposes
of titles I and III.”57 The issue of insurance was discussed by the Department of
Justice in its technical assistance manual which observed that “[t]he ADA, therefore,
does not prohibit use of legitimate actuarial considerations to justify differential58
treatment of individuals with disabilities in insurance.” Thus, if an insurer uses
legitimate actuarial considerations regarding providing insurance to an individual
with a genetic condition, it is unlikely that there would be a violation of the ADA.
On February 9, 2000, President Clinton signed Executive Order 13145
prohibiting genetic discrimination against employees in federal executive
departments and agencies. In announcing the executive order at a meeting of the
American Association for the Advancement of Science, the President stated that
“This extraordinary march of human understanding imposes on us a profound
responsibility to make sure that the age of discovery can continue to reflect our most
53 42 U.S.C. § 12182.
54 42 U.S.C. § 12181(7)(F).
55 For a more detailed discussion see Robert B. Lanman, “An Analysis of the Adequacy of
Current Law in Protecting Against Genetic Discrimination in Health Insurance and
Employment,” (May 2005) reproduced at [http://www4.od.nih.gov/oba/sacghs/reports
/reports.html #discrimi nation].
56 42 U.S.C. § 12201(c).
cherished values.”59 Many commentators lauded the executive order, and quoted
with approval its description as “preventive policy making — to put in place the
kind of protections that the public needs and deserves before we find ourselves in a
needless crisis situation.”60 However, it has also been criticized both on a
philosophical level61 and in the details of its coverage.62 The EEOC has issued
guidance on the executive order.63
The executive order defines “protected genetic information” as “(A) information
about an individual’s genetic tests; (B) information about the genetic tests of an
individual’s family members; or (C) information about the occurrence of a disease;
or medical condition or disorder in family members of the individual.” Current
health status information would not be protected under this executive order unless
it was derived from the information described above.
The executive order requires executive departments and agencies to implement
the following nondiscrimination requirements:
!the employing entity shall not discharge, fail or refuse to hire, or
otherwise discriminate against any employee because of protected
genetic information or because of information about a request for or
receipt of genetic services;
!the employing entity shall not limit, segregate or classify employees
in any way that would deprive or tend to deprive any employee of
employment opportunities or otherwise adversely affect that
employee’s status because of protected genetic information or
because of information about a request for or receipt of genetic
59 “President’s Order Bars Discrimination Based on Genetics,” Investor’s Business Daily
A9 (February 9, 2000).
60 Wendy R. Uhlmann, “When Genes are Decoded, Who Should See the Results?; Every
one of us at Risk,” The New York Times F7 (February 29, 2000).
61 Michael Kinsley, editor of Slate, an online magazine, observed that “genetic
discrimination is universal, inevitable and, in some ways, essential.... Practice, practice will
get you to Carnegie Hall, but only if you’ve been born on the right bus.... The world would
be a poorer place if it did not distinguish between me and Yo-Yo Ma in doling out
opportunities to be a concert cellist.” Michael Kinsley, “Genetic Correctness,” The
Washington Post A29 (April 18, 2000).
62 Mark A. Hall, a law professor at Wake Forest University, argues that the order’s
prohibition of considering predictive genetic information would not allow for the screening
of susceptibility to toxic exposure prior to working in such an environment and would not
allow for the use of genetic predispositions to future conditions that could effect job
performance. Mark A. Hall, “When Genes are Decoded, Who Should See the Results?;
Many ‘Greatly Overestimate the Risk’,” The Washington Post F7 (February 29, 2000).
!the employing entity shall not request, require, collect, or purchase
protected genetic information with respect to an employee or
information about a request for or receipt of genetic services;
!the employing entity shall not disclose protected genetic information
with respect to an employee or information about a request for or
receipt of genetic services with certain exceptions;
!the employing entity shall not maintain protected genetic
information or information about a request for or receipt of genetic
services in general personnel files. Such materials shall be treated
as confidential medical records and kept separate from personnel
There are certain exceptions to these prohibitions. For example, the employing
entity may request or require information if such current condition could prevent the
applicant or employee from performing the essential functions of the job, or where
it is to be used exclusively to determine whether further medical evaluation is needed
to diagnose a current disease. Genetic monitoring of biological effects of toxic
substances in the workplaces are permitted in certain circumstances.
Although the Constitution does not expressly provide for a right to privacy, the
Supreme Court has found some right to informational privacy.64 However, these
rights are limited by judicial deference to government’s need to acquire the
information and by the fact that such a constitutional right would be limited to state
action. As a practical matter, this would mean that federal or state collections of
information may receive some constitutional protection but the collection and use of
information by private health plans or organizations would not be covered.65
The ninth circuit court of appeals in Norman-Bloodsaw v. Lawrence Berkeley66
Laboratory touched upon privacy issues in the context of genetic information. The
Lawrence Berkeley Laboratory, a research institution jointly operated by state and
federal agencies, allegedly tested the blood and urine of its employees for several
medical conditions, including sickle cell trait. The employees sued alleging various
statutory and constitutional violations including the violation of the right to privacy.
The district court had dismissed the claims but the court of appeals remanded
64 See e.g., Whalen v. Roe, 429 U.S. 589 (1977).
65 For a more detailed discussion of this issue see Gostin, “Genetic Privacy,” 23 J. of Law,
Medicine & Ethics 320 (1995).
66 135 F.3d 1260 (9th Cir. 1998).
observing that “[o]ne can think of few subject areas more personal and more likely
to implicate privacy interests than that of one’s health or genetic make-up.”67
Privacy Act of 1974. Certain federal statutes may provide some privacy
protection for medical records. The Privacy Act of 1974, 5 U.S.C. § 552a, prohibits
the disclosure of records maintained on individuals by federal government agencies
except under certain conditions. Subsection 552a(f)(3) allows agencies to establish
special procedures for individuals who wish to access their medical records. The
intent of this provision as described in the House report was to ensure rules so that
an individual who would be adversely affected by the receipt of such data may be
apprized of it in a manner which would not cause such adverse effects.68
The Freedom of Information Act (FOIA). The Freedom of Information
Act (FOIA), 5 U.S.C. §§ 552 et seq., establishes a right of access to records
maintained by agencies within the executive branch of the federal government. It
contains several exemptions, including one for “personnel and medical files and
similar files the disclosure of which would constitute a clearly unwarranted invasion69
of personal privacy.” Both the Privacy Act and FOIA may, then, provide some
privacy protections for genetic information but they are limited in their scope and70
would not encompass information held by a private entity.
The Americans with Disabilities Act (ADA). The ADA provides for
some privacy protections for individuals with disabilities in the context of
employment. Before an offer of employment is made, an employer may not ask a71
disability related question or require a medical examination. The EEOC in its
guidance on this issue stated that the rationale for this exclusion was to isolate an
employer’s consideration of an applicant’s non-medical qualifications from any
consideration of the applicant’s medical condition.72 Once an offer is made,
disability related questions and medical examinations are permitted as long as all
individuals who have been offered a job in that category are asked the same questions73
and given the same examinations. The ADA also requires that information
67 Id. at 1269. The ninth circuit also noted that the tests at issue “may also be viewed as
searches in violation of Fourth Amendment rights.”
68 H.Rept. 93-1416. 93d Cong., 2d Sess. 16-17 (1974).
69 5 U.S.C. § 552(b)(6).
70 For a discussion of recent developments in medical records privacy, see CRS Report
RS20500, Medical Records Privacy: Questions and Answers on the HIPAA Final Rule, by
C. Stephen Redhead.
71 42 U.S.C. § 12112.
72 EEOC, “ADA Enforcement Guidance: Preemployment Disability-Related Questions and
Medical Examinations,” Oct. 10, 1995.
obtained regarding medical information be kept in a separate medical file.74 The
precise reach of the protections, especially regarding predictive genetic information
is uncertain. As was discussed previously, it is not clear whether the definition of
disability under the ADA would cover an individual with a genetic predisposition to
a condition when that condition has not manifested.75
The Health Insurance Portability and Accountability Act (HIPAA).
The Health Insurance Portability and Accountability Act (HIPAA) contains
requirements for the standardization of electronically transmitted health insurance
financial claims and administrative transactions, such as the submission of claims,
processing of enrollments, verification of insurance eligibility, and payment and
remittance advice. HIPAA required the Secretary of Health and Human Services
(HHS) to make recommendations to Congress by August 1997 concerning the
protection of privacy of individually identifiable health information and Congress had
until August 1999 to enact legislation on this issue. If Congress did not enact
legislation, HIPAA requires the Secretary of HHS to promulgate regulations on
privacy protections. The Secretary of HHS issued final regulations on December 20,
The final privacy regulations, which became effective on April 14, 2001, and
were modified on August 14, 2002,77 apply to health insurers, providers, and health
care clearinghouses and give patients the right to inspect, copy and in certain
situations, amend their medical records. The regulations cover all personal health
information in paper, oral or electronic form. Individually identifiable health
information is defined broadly and includes genetic information as well as78
information about an individual’s family history. Covered entities are required to
have in place reasonable safeguards to protect the privacy of patient information and
limit the information used or disclosed to the minimum amount necessary to
accomplish the intended purpose of the disclosure. Civil money penalties are
provided, although there is no private right of action, and egregious violations carry
federal criminal penalties of up to $250,000 and ten years in prison. Although these
regulations are general and not specific to genetics, they will have an effect on
genetic information. In the comments to the regulations, the Department noted that
many commentators requested additional protections for sensitive information,
74 42 U.S.C. § 12112(d)(3) and (4).
75 One commentator has observed that “the complexity of the ADA, its differential treatment
of prospective and existing employees, the especially wide latitude that employers have to
require medical examinations and make medical inquiries at the post-offer stage and the
centrality of the concept of ‘disability’ to the operation of the statute have led to confusion
in the courts, and in many workplaces, about the precise contours of the ADA’s privacy
protections.” Joanne L. Hustead and Janlori Goldman, “The Genetics Revolution: Conflicts,
Challenges, and Conundra: Genetics and Privacy,” 28 Am. J. L. and Med. 285, 294 (2002).
76 65 Fed. Reg. 82461 (Dec. 20, 2000). For a more detailed discussion, see CRS Report
RS20500, Medical Records Privacy: Questions and Answers on the HIPAA Final Rule, by
C. Stephen Redhead, and CRS Report RS20934, A Brief Summary of the Medical Privacy
Rule, by Gina Marie Stevens.
77 67 Fed. Reg. 53181 (Aug. 14, 2002).
78 There are additional protections regarding “psychotherapy notes.”
including genetic information. In response, the Department noted that generally the
regulations do not differentiate among types of protected health information.79
Although there is limited federal law relating to the use of genetic information,
many states have enacted statutes dealing with various aspects of these issues. Early
state statutes focused on particular genetic conditions. The first statute to prohibit
discrimination based on a genetic trait was enacted in North Carolina and prohibited
employment discrimination based on the sickle cell trait. In 1991 Wisconsin became
the first state to enact a comprehensive law to prohibit discrimination based on
genetic test results. Currently, the states vary in their provisions with some
prohibiting discrimination in employment while others deal solely with
discrimination in insurance. A recent survey of state law found that thirty-four states80
have enacted genetic nondiscrimination in employment laws. These laws vary and
the National Conference of State Legislatures noted:
All laws prohibit discrimination based on the results of genetic tests; many
extend the protections to inherited characteristics, and some include test results
of family members, family history and information about genetic testing, such as
the receipt of genetic services. Most states also restrict employer access to
genetic information, with some prohibiting employers from requesting, requiring
and obtaining genetic information or genetic test results, or directly or indirectly
performing or administering genetic tests. Some states may also make
exceptions to statutory requirements if, for example, genetic information may81
identify individuals who may be a safety risk in the workplace.
A related survey found that forty-seven states have passed laws pertaining to the82
use of genetic information in health insurance. Many state genetic laws also include
specific provisions relating to genetic privacy.83 In a recent survey, twenty-seven
states were found to require consent to disclose genetic information while seventeen
states require informed consent for a third party to perform or require a genetic test
79 65 Fed. Reg. 82731 (Dec. 20, 2000). A hearing in the 107th Congress examined the issues
relating to the privacy of genetic information. See “Privacy Concerns Raised by the
Collection and Use of Genetic Information by Employers and Insurers” Before the Houseth
Subcommittee on the Constitution of the House Judiciary Committee, 107 Cong., 2d Sess.
(September 12, 2002).
80 National Conference of State Legislatures Genetics Tables, State Genetics Employment
82 National Conference of State Legislatures Genetics Tables, State Genetic
Nondiscrimination in Health Insurance, [http://www.ncsl.org/programs/health/genetics/
83 National Conference of State Legislatures Genetics Tables, State Genetic Privacy Laws,
[http://www.ncsl.org/ programs/health/genetics/prt.htm] .
or obtain genetic information. Eighteen states were found which establish specific
penalties for violating genetic privacy laws.84
Although these state statutes do provide some types of coverage, they do not
cover employer self-funded plans providing private health insurance for employees
and their dependents. These plans are exempt from state insurance laws due to the
preemption provision in the federal Employee Retirement Income Security Act
(ERISA).85 Since it has been estimated that over one-third of the nonelderly insured
population obtains its coverage through self-funded plans and these types of plans are
increasing, the ERISA exemption limits the application of state laws significantly.86
Legislation in the 110th Congress
H.R. 493, the Genetic Information Nondiscrimination Act of 2007 (GINA), was
introduced by Representative Slaughter and 143 cosponsors on January 16, 2007.
After being reported out of the House Education and Labor Committee, the House
Energy and Commerce Committee, and the House Ways and Means Committee, the
bill passed the House on April 25, 2007, by a vote of 420 to 3. H.R. 493, as passed
by the House, contains provisions prohibiting genetic discrimination in health
insurance (Title I) and in employment (Title II). On March 5, 2008, the text of H.R.
493 as passed by the House was added to the end of the Paul Wellstone Mental
Health and Addiction Equity Act of 2007 (H.R. 1424) in the engrossment of H.R.
1424.87 On April 24, 2008, the Senate took up H.R. 493, replaced the existing
language with an amendment in the nature of a substitute, and passed the measure,
as amended, by a vote of 95-0. H.R. 493, as amended and passed by the Senate, is
very similar to the version passed by the House last year. The most significant
difference is new language strengthening the “firewall” between Title I and Title II
of the act. The House is expected to pass H.R. 493 (as amended) during the week of
April 28, 2008.
Senator Snowe, joined by 22 cosponsors, introduced S. 358, a companion bill
to H.R. 493, on January 22, 2007. Senator Snowe noted in her introductory remarks
that “in June of 2003, after sixteen months of bipartisan negotiation, we achieved a
unified, bipartisan agreement to address genetic discrimination. Today we again
introduce the legislation encompassing that agreement, which the Senate has twice
85 29 U.S.C. §§ 1001-1145.
86 Hudson, “Genetic Discrimination and Health Insurance: an Urgent Need for Reform,” 270
Science 391 (1995); Rothenberg, “Genetic Information and Health Insurance: State
Legislative Approaches,” 23 J. of Law, Med. & Ethics 312 (1995).
87 The Senate passed S. 558, Mental Health Parity Act of 2007 on September 18, 2007.
passed ... unanimously.”88 S. 358, which, like H.R. 493, contains provisions
prohibiting genetic discrimination in health insurance (Title I) and in employment
(Title II), was reported out of the Senate Health, Education, Labor, and Pensions
Committee on March 29, 2007.
H.R. 493, as passed originally by the House and most recently by the Senate,
prohibits health insurance plans from denying enrollment or charging higher
premiums to individuals or groups based on an individual’s or family member’s
genetic information. It also prohibits health insurance plans from requesting or
requiring that any individual, or family member of an individual, undergo a genetic
test. In addition, it contains privacy provisions amending the HIPAA statute to
require revisions in the HIPPA Privacy Rule prohibiting certain uses and disclosures
of genetic information.
H.R. 493, as passed originally by the House and most recently by the Senate,
provides that references to genetic information include genetic information on a fetus
carried by a pregnant woman and, with respect to an individual utilizing assisted
reproductive technology, includes genetic information of any embryo legally held by
the individual or family member. H.R. 493 allows group health plans to obtain
genetic information for purposes of payment, and allows a plan to request that an
individual undergo a genetic test for the purposes of research, but the plan must make
clear that this would be entirely voluntary on the part of the individual and would not
be used for underwriting purposes.
H.R. 493, as passed originally by the House and most recently by the Senate,
also prohibits discrimination in employment because of genetic information and, with
certain exceptions, prohibits an employer from requesting, requiring, or purchasing
genetic information. If such information is obtained, the bill requires that it be
treated as part of a confidential medical record and provides that an employer is
considered to be in compliance with the maintenance of information requirements if
the genetic information is treated as a confidential record under § 102(d)(3)(B) of the
Americans with Disabilities Act.89 In addition, the bill does not prohibit an entity
covered by regulations promulgated pursuant to part C of Title XI of the Social
Security Act90 or section 264 of the Health Insurance Portability and Accountability
Act91 from any use or disclosure of health information that is authorized by those
regulations. H.R. 493 adds a provision in Title II, like that in Title I, relating to the
genetic information of a fetus or embryo. There are detailed provisions on
enforcement that generally apply the remedies available in existing civil rights laws
such as Title VII of the Civil Rights Act of 1964, 42 U.S.C. § 2000e-4 et seq.
On January 17, 2007, the White House issued a statement calling upon Congress
to pass genetic nondiscrimination legislation. The administration praised the Senate
for passing a bipartisan genetic nondiscrimination bill in the 109th Congress and
88 153 CONG. REC. S. 846 (Daily Ed. Jan. 22, 2007).
89 42 U.S.C. § 12112(d)(3)(B).
90 42 U.S.C. § 1320d et seq.
91 42 U.S.C. § 1320d-2 note.
noted that “the Administration looks to build on that success and work with both
houses of Congress, and the business community, to pass a bill the President can sign
into law.”92 The news release noted the importance of genetic nondiscrimination
protections for the ability to use new genetic technologies, and observed that “the
President believes it is critical that an individual’s personal genetic information not
be used by an employer to deny a job....[and] that insurance companies do not use
genetic information to deny an application for coverage.”93
Legislation in the 109th Congress
In the 109th Congress, S. 306, the Genetic Information Nondiscrimination Act
of 2005, was introduced by Senator Snowe on February 7, 2005. The Senate Health,
Education, Labor and Pensions Committee reported S. 306 out with an amendment
in the nature of a substitute by a voice vote. The bill was passed, with an
amendment, on February 17, 2005 by a vote of 98-0. The amendment deleted former
section 103 which would have added a prohibition of discrimination based on genetic
information or services in church health insurance plans to the Internal Revenue
Code. The Administration indicated that it favored enactment of legislation to
prohibit the improper use of genetic information in health insurance and employment
and supported the enactment of S. 306, 109th Congress.94 A companion bill, H.R.
H.R. 1227 was referred to the House Committees on Education and the Workforce,
Energy and Commerce, and Ways and Means.
S. 306 was similar to S. 1053, which passed the Senate in 2003. It prohibits
health insurance plans from denying enrollment or charging higher premiums to
individuals based on the individual’s or family member’s genetic information. In
addition, it contains privacy provisions prohibiting certain uses and disclosures of
genetic information as well as prohibiting the collection of genetic information for
insurance underwriting purposes. S. 306 also prohibits discrimination in employment
because of genetic information and, with certain exceptions, prohibits an employer
from requesting, requiring, or purchasing genetic information. If such information
is obtained, the bill requires that it be treated as part of a confidential medical record.
There are detailed provisions on enforcement which generally apply the remedies
available in existing civil rights laws such as Title VII of the Civil Rights Act of
Another bill, H.R. 6125, 109th Congress, was introduced in the House on
September 20, 2006 by Representative Paul. This bill would have prohibited
discrimination based on genetic information by certain group health plans and in
employment by federal, state or local entities or recipients of federal financial
assistance or contractors. Employees or family members who have been adversely
effected would have had a cause of action in federal court for compensatory and
92 See [http://www.whitehouse.gov/news/releases/2007/01/print/20070117-1.html].
94 “Statement of Administration Policy, S. 306 — Genetic Information Nondiscrimination
Act of 2005,” reprinted in 151 Cong. Rec. S. 1481 (Daily ed. Feb 16, 2005).
punitive damages, with the punitive damages limited to no more than 30% of
Legislation in the 108th Congress
Several bills were introduced in the 108th Congress to address genetic
discrimination and privacy. For example, S. 16, the Equal Rights and Equal Dignity
for Americans Act of 2003 introduced by Senator Daschle on January 17, 2003,
contained nondiscrimination provisions relating to insurance and employment. On
May 1, 2003, Representative Slaughter introduced H.R. 1910, The Genetic
Nondiscrimination in Health Insurance and Employment Act, which prohibited
genetic discrimination in insurance and employment. H.R. 1910 was a companion
to S. 1053, introduced by Senator Snowe on May 13, 2003, in the Senate.
On October 14, 2003, the Senate passed the Genetic Information
Nondiscrimination Act of 2003 (S. 1053).95 This bill prohibited health insurance
plans from denying enrollment or charging higher premiums to individuals based on
the individual’s or family member’s genetic information. In addition, the bill banned
the collection, use and disclosure of genetic information for insurance underwriting
purposes. In the employment context, this bill prohibited the use of genetic
information in employment decisions, such as hiring, firing, job assignments and
promotions. The bill also prevented the acquisition and disclosure of genetic
information as well as applies the procedures and remedies authorized under the Civil
Rights Act of 1964 to cases of genetic discrimination. Although President Bush
supported genetic discrimination legislation and the House held a hearing in July
Legislation in the 107th Congress
Legislation relating to genetic discrimination and privacy was a major issue in
the 107th Congress. The Senate version of the Patient Protection Act, S. 1052, which
passed the Senate on June 29, 2001, contained an amendment prohibiting certain
genetic discrimination by group health plans and health insurance issuers. It also
contains a provision relating to confidentiality. Congress did not pass the legislation
prior to the adjournment of the 107th Congress.
Other Senate legislation in the 107th took various approaches. S. 318,
introduced by Senator Daschle, would have prohibited genetic nondiscrimination in
health insurance and employment. S. 1995 sponsored by Senators Snowe, Frist and
Jeffords, also would have prohibited genetic discrimination in insurance and
employment but was less broad that S. 318. S. 19, the Protecting Civil Rights for all
Americans Act introduced by Senator Daschle, contained nondiscrimination
provisions relating to insurance and employment. Senator Snowe also introduced S.
95 149 Cong. Rec S12394-12508 (daily ed. Oct. 4, 2003).
96 “Genetic Non-Discrimination: Examining the Implications for Workers and Employers”
Subcommittee on Employer-Employee Relations, House Committee on Education and
Workforce (July 22, 2004).
which would have prohibited discrimination in insurance. S. 450, the Financial
Institution Privacy Protection Act of 2001 introduced by Senator Nelson, contained
provisions protection the privacy of health information, including genetic
In the House, Representative Slaughter introduced H.R. 602, the Genetic
Nondiscrimination in Health Insurance and Employment Act, which would have
prohibited genetic discrimination in insurance and employment. H.R. 602 was
paralleled by S. 318 in the Senate.
Legislation in the 106th Congress
Although legislation specifically relating to genetic discrimination and privacy
was not enacted during the 106th Congress, a provision relating to health insurance
was considered in the conference on H.R. 2990. The Senate amended H.R. 2990 as
passed by the House, striking all the language after the enacting clause and
substituting the language in S. 1344. This Senate bill would have amended ERISA,
the Public Health Service Act and the Internal Revenue Code to prohibit health plans
or health insurance issuers, in both group and individual markets, from using
predictive genetic information to set premiums. It also contained confidentiality
Senator Daschle had offered a more comprehensive amendment to the FY2001
Labor-HHS Appropriations bill, S. 2553. It would have prohibited insurance
companies from raising premiums or denying coverage on the basis of genetic tests
and would have also barred employers from using predictive genetic information to
make employment-related decisions. The amendment was defeated by a vote of 54-
97 For a more detailed discussion of this legislation, see CRS Report RS20185, Privacy
Protection for Customer Financial Information, by M. Maureen Murphy.